Product Details

SNP ID
rs144375935
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:182147093 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTTTCGGGCCTATGAATGTGTCT[C/T]ATCATGTTTTTCTTCAGCATTTACT
Phenotype
MIM: 171890
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDE1A PubMed Links

Gene Details

Gene
PDE1A
Gene Name
phosphodiesterase 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003683.2 1989 Intron NP_001003683.1
NM_001258312.1 1989 Missense Mutation AAG,GAG K546E NP_001245241.1
NM_001258313.1 1989 Intron NP_001245242.1
NM_001258314.1 1989 Intron NP_001245243.1
NM_005019.4 1989 Missense Mutation AAG,GAG K542E NP_005010.2
XM_011511323.2 1989 Intron XP_011509625.1
XM_011511324.2 1989 Intron XP_011509626.1
XM_011511325.2 1989 Intron XP_011509627.1
XM_011511326.2 1989 Intron XP_011509628.1
XM_017004294.1 1989 Intron XP_016859783.1
XM_017004295.1 1989 Missense Mutation AAG,GAG K542E XP_016859784.1
XM_017004296.1 1989 Missense Mutation AAG,GAG K542E XP_016859785.1
XM_017004297.1 1989 Missense Mutation AAG,GAG K542E XP_016859786.1
XM_017004298.1 1989 Missense Mutation AAG,GAG K542E XP_016859787.1
XM_017004299.1 1989 Intron XP_016859788.1
XM_017004300.1 1989 Intron XP_016859789.1
XM_017004301.1 1989 Intron XP_016859790.1
XM_017004302.1 1989 Missense Mutation AAG,GAG K526E XP_016859791.1

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